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Probes for ASH are usually designed so that the variant base/point mutation is situated centrally, because centrally placed mismatches have a higher destabilizing effect on the duplex than mismatches at the ends, and therefore give a better discrimination [1] [5].
The p. Gly286Val mutation is situated in the direct proximity of the fourth transmembrane domain.
While amino acid 90 falls within the expected attachment region in this loop, the K61R mutation is situated along the exposed flank of the VNAR, apparently outside the antigen-binding paratope.
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The R629H mutation was situated outside the RBD.
All the mutations were situated in the seventh transmembrane domain of the TSH receptor (from codon 619 to codon 633).
This was not entirely unexpected since Lrp4 interacts with the extracellular portion of MuSK and the mutations are situated in the TKD of the enzyme located intracellularly.
Two recently approved drugs, Nilotinib [ 1] and Dasatinib [ 2] inhibit the activity of mutated Bcr-Abl that is refractory to Imatinib except the 'gatekeeper' T315I mutation, which is situated in the middle of the ATP-binding cleft [ 3].
G6PD Mediterrenean or G6PD c.563C > T variant (188 Ser → Phe) is a type II mutation and is situated in exon 6 of G6PD gene.
The frameshift mutation G1737fsX1742 described here is situated in the DSP-1 specific region of exon 23, similar to the p.R1267X mutation.
Mutation at position 258 is situated in the mTOR binding region, and could thus influence the affinity for mTOR.
This transcriptional impairment is situated midway between normal and MODY causative mutations [ 18].
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